ACMG guidelines for genetic counselling

Click here to read a comment written by Heather Skirton on the ACMG (American College of Medical Genetics and Genomics) guidelines.

ACMG guidelines for genetic counselling

A Working Group of the ACMG has spent a year developing a set of recommendations for reporting incidental findings (click here). While the situation with regard to notifying patients of incidental findings arising from exome and genome sequencing (defined by the ACMG as clinical sequencing) requires clarification, it seems that the ACMG has gone well beyond the issue of incidental findings with these recommendations. From my perspective some of the guidance appears to contravene ethical practice.

Within the recommendations, the use of the term incidental findings (or secondary finding) is redefined to mean any pathogenic finding outside the ‘primary finding’. However, as testing for other mutations is deliberate, the use of the term incidental findings would seem to be a misnomer. The ACMG in essence recommends that a panel of tests are performed whenever WGS or WES is performed for mutation analysis. These are based on criteria that include clinical utility of the result and include mutations in numbers of genes implicated in cancer syndromes and inherited cardiac conditions. While pre- and post-test counselling is recommended, the Working Group acknowledges that counselling regarding each of these conditions would be challenging and the secondary tests are therefore performed without meaningful informed consent. What is even more concerning is the lack of consideration of the patient’s wishes in this process. The recommendations, which apply to competent adults and parents or guardians of minors, state that if the patient does not wish to have results of mutation analysis for a set of secondary conditions (as identified by the ACMG), then they have the right to decline sequencing. In other words, it appears that the patient cannot have sequencing for the primary condition that concerns them unless they agree to receive a set of results on conditions that they may have never previously considered. The rationale for excluding patient preference is that such a process of seeking patient’s consent would be unwieldy. If that is the case, many of us would ask why testing was being performed for conditions outside the patient’s concern. While this process will undoubtedly enable better healthcare management for some patient, it may also deny others the chance to obtain a firm diagnosis for their primary condition.

In my opinion, this stand is objectionable and contravenes the essence of genetic healthcare: supporting patient autonomy and choice. I strongly urge health professionals in Europe to find an ethically acceptable route to dealing with incidental findings.

Heather Skirton

Click here to see a comment by phgfoundation and here to read the ESHG recommendations for whole genome sequencing in health care.